Canonical Allele Identifier: CA2195404379
Community Standard Title: NM_018668.5(VPS33B):c.319C= (p.Arg107=)
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91013842G= , CM000677.2:g.91013842G= GRCh38
NC_000015.9:g.91557072G= , CM000677.1:g.91557072G= GRCh37
NC_000015.8:g.89358076G= NCBI36
NG_012162.1:g.13762C= , LRG_884:g.13762C=

Transcript Alleles

HGVS Amino-acid Change
NM_018668.5:c.319C= MANE Select NP_061138.3:p.Arg107=
ENST00000333371.8:c.319C= MANE Select ENSP00000327650.4:p.Arg107=
NM_001289148.1:c.238C= NP_001276077.1:p.Arg80=
NM_001289149.1:c.46C= NP_001276078.1:p.Arg16=
NM_018668.4:c.319C= , LRG_884t1:c.319C= NP_061138.3:p.Arg107=
ENST00000333371.7:c.319C= ENSP00000327650.3:p.Arg107=
ENST00000535906.1:c.238C= ENSP00000444053.1:p.Arg80=
ENST00000554264.5:n.242C=
ENST00000556096.6:n.713C=
ENST00000557358.1:n.523C=
ENST00000574755.5:c.*14C= ENSP00000460413.1:n.*14C=
ENST00000643536.1:c.319C= ENSP00000494429.1:p.Arg107=
ENST00000647331.1:c.319C= ENSP00000493953.1:p.Arg107=
XM_005254884.2:c.319C= XP_005254941.1:p.Arg107=
XM_005254887.1:c.46C= XP_005254944.1:p.Arg16=
XM_005254888.2:c.319C= XP_005254945.1:p.Arg107=
XM_011521448.1:c.46C= XP_011519750.1:p.Arg16=
XM_017022075.2:c.-43C= XP_016877564.1:n.-43C=
XM_017022076.1:c.-43C= XP_016877565.1:n.-43C=
XR_001751213.2:n.655C=